Microcephaly deafness syndrome
Microcephaly deafness syndrome | |
---|---|
Other names | Microcephaly-deafness syndrome, Microcephaly-deafness-intellectual disability syndrome. |
This disorder is thought to be inherited in an autosomal dominant fashion. | |
Specialty | Medical genetics, Pediatry, Psychology |
Symptoms | intellectual disabilities and cranio-facial abnormalities |
Usual onset | Conception |
Duration | Life-long |
Causes | Genetic mutation |
Prognosis | Good |
Frequency | Very rare, only 2 cases have ever been reported. |
Microcephaly deafness syndrome is an extremely rare genetic disorder which consists of microcephaly, congenital hearing loss, mild intellectual disability, speech delay, low height, and facial dysmorphisms (such as low-set cup-shaped ears, protruding lower lips, micrognathia, epicanthal folds, drooping lower lip, and a rather big distance between both eyebrows).[1][2][3][4][5] Only 2 cases of this disorder have been recorded in medical literature; a mother and her son. The researchers who discovered this disorder (Kawashima and Tsuji, in 1987) later suggested that this disorder was inherited in an autosomal dominant manner, although the genetic cause of it has never been found.[6][7] It's estimated to affect less than 1 in a million people worldwide.[8]
References
- ^ https://www.medifind.com/conditions/microcephaly-deafness-syndrome/3399
- ^ https://rarediseases.oscar.ncsu.edu/disease/microcephaly-deafness-intellectual-disability-syndrome/about/
- ^ "Microcephaly deafness syndrome - About the Disease - Genetic and Rare Diseases Information Center".
- ^ "Eurofins Biomnis".
- ^ "Microcephaly deafness syndrome".
- ^ "OMIM Entry - 156620 - MICROCEPHALY-DEAFNESS SYNDROME".
- ^ "Orphanet: Microcephaly deafness intellectual disability syndrome".
- ^ https://www.malacards.org/card/microcephaly_deafness_syndrome_2